A Retrospective Study of Subjects With Thymidine Kinase 2 Deficiency

Zogenix MDS, Inc.61 enrolled

Overview

This is a multicenter, multinational, retrospective chart-review study to evaluate survival in patients with Thymidine Kinase 2 deficiency (TK2d).

This is a retrospective, chart-review study. The primary goal is to use data on survival and other related information to support a comprehensive evaluation of patients with Thymidine Kinase 2 deficiency (TK2d) who have not been treated with pyrimidine nucleos(t)ides including deoxycytidine monophosphate/deoxythymidine monophosphase (dCMP/dTMP), and deoxycytidine/deoxythymidine (dC/dT), and/or MT1621(dC/dT), and those that have received one or more of these treatments. The secondary goals of this study will focus on describing the participant's clinical course and treatment experience.

Study Type

OBSERVATIONAL

Enrollment

Conditions

Thymidine Kinase 2 Deficiency

Interventions

Observational retrospective dataOTHER

Non-intervention

Eligibility

Sex: ALL

Medical Language ↔ Plain English

Inclusion Criteria: 1. Signed informed consent by the subject or parent(s)/LAR and/or assent by the subject (when applicable), unless the associated IRB or EC provides an appropriate consent waiver that allows review of medical records for this study. 2. Confirmed genetic mutations in the TK2 gene. 3. Availability of medical records or information pertaining to vital status at a minimum. Exclusion Criteria: Not applicable as this is a non-interventional study.

Locations (12)

David Geffen School of Medicine at UCLA

Los Angeles, California, United States

Indiana University School of Medicine

Indianapolis, Indiana, United States

Akron Children's Hospital

Akron, Ohio, United States

Outcomes

Primary Outcomes

Number of participants who have died.

Participant date of death or date last known alive.

Time frame: Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first.

Secondary Outcomes

Change from baseline in development motor milestones.

Modified motor milestones as defined by World Health Organization include: Ability to Hold head upright, unassisted; Ability to roll from supine to sides; Ability to sit upright, unassisted; Ability to sit upright, slightly assisted; Ability to raise self and stand; Ability to stand, unassisted; Ability to stand, assisted; Ability to walk, unassisted; Ability to walk, assisted; Ability to climb stairs, unassisted; Ability to climb stairs, assisted; Ability to jump; Ability to hop; Ability to run

Time frame: Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first.

Change from baseline in feeding support.

Feeding support includes gastrostomy tube or nasogastric tube.

Time frame: Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first.

Change from baseline in respiratory support.

Respiratory support includes non-invasive ventilation (e.g. bi-level positive airway pressure \[Bi-PAP\]) and mechanical ventilation.

Time frame: Start of observation period (first medical record available on site), to last medical record available on site or end of observation period on 12-Jan-2022, whichever comes first.

Clinical Global Impression of Improvement (CGI-I).

The CGI-I is a 7-point Likert scale would have been conducted by a physician or trained rater at a clinic visit to establish overall clinical change.

Data from ClinicalTrials.gov

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